Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Cervix/PTBP2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/PTBP2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/PTBP2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/PTBP2_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/PTBP2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/PTBP2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/PTBP2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/PTBP2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004348410 | Cervix | CC | regulation of RNA splicing | 42/2311 | 148/18723 | 1.25e-07 | 6.24e-06 | 42 |
GO:003311910 | Cervix | CC | negative regulation of RNA splicing | 13/2311 | 25/18723 | 1.83e-06 | 5.89e-05 | 13 |
GO:000838010 | Cervix | CC | RNA splicing | 76/2311 | 434/18723 | 9.79e-04 | 8.19e-03 | 76 |
GO:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
GO:0043484 | Colorectum | AD | regulation of RNA splicing | 70/3918 | 148/18723 | 6.47e-13 | 1.16e-10 | 70 |
GO:0033119 | Colorectum | AD | negative regulation of RNA splicing | 15/3918 | 25/18723 | 2.37e-05 | 4.62e-04 | 15 |
GO:00083801 | Colorectum | SER | RNA splicing | 123/2897 | 434/18723 | 3.84e-12 | 8.41e-10 | 123 |
GO:00434841 | Colorectum | SER | regulation of RNA splicing | 49/2897 | 148/18723 | 7.02e-08 | 4.49e-06 | 49 |
GO:00331191 | Colorectum | SER | negative regulation of RNA splicing | 12/2897 | 25/18723 | 1.32e-04 | 2.66e-03 | 12 |
GO:00083802 | Colorectum | MSS | RNA splicing | 159/3467 | 434/18723 | 1.75e-19 | 1.22e-16 | 159 |
GO:00434842 | Colorectum | MSS | regulation of RNA splicing | 66/3467 | 148/18723 | 2.44e-13 | 5.25e-11 | 66 |
GO:00331192 | Colorectum | MSS | negative regulation of RNA splicing | 14/3467 | 25/18723 | 3.07e-05 | 6.18e-04 | 14 |
GO:00434844 | Colorectum | FAP | regulation of RNA splicing | 53/2622 | 148/18723 | 2.16e-11 | 1.02e-08 | 53 |
GO:00083804 | Colorectum | FAP | RNA splicing | 108/2622 | 434/18723 | 7.90e-10 | 1.86e-07 | 108 |
GO:00331194 | Colorectum | FAP | negative regulation of RNA splicing | 11/2622 | 25/18723 | 2.66e-04 | 3.61e-03 | 11 |
GO:00434845 | Colorectum | CRC | regulation of RNA splicing | 43/2078 | 148/18723 | 1.75e-09 | 5.31e-07 | 43 |
GO:00083805 | Colorectum | CRC | RNA splicing | 90/2078 | 434/18723 | 2.80e-09 | 7.97e-07 | 90 |
GO:00331195 | Colorectum | CRC | negative regulation of RNA splicing | 8/2078 | 25/18723 | 4.33e-03 | 3.47e-02 | 8 |
GO:000838016 | Endometrium | AEH | RNA splicing | 111/2100 | 434/18723 | 2.42e-17 | 1.12e-14 | 111 |
GO:004348416 | Endometrium | AEH | regulation of RNA splicing | 55/2100 | 148/18723 | 1.28e-16 | 5.49e-14 | 55 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PTBP2 | SNV | Missense_Mutation | novel | c.1513N>A | p.Ala505Thr | p.A505T | Q9UKA9 | protein_coding | deleterious(0.02) | benign(0.031) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
PTBP2 | SNV | Missense_Mutation | | c.52N>A | p.Glu18Lys | p.E18K | Q9UKA9 | protein_coding | tolerated(0.05) | benign(0.105) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PTBP2 | SNV | Missense_Mutation | novel | c.821N>A | p.Arg274Gln | p.R274Q | Q9UKA9 | protein_coding | deleterious(0.04) | probably_damaging(0.921) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PTBP2 | SNV | Missense_Mutation | novel | c.236N>A | p.Gly79Asp | p.G79D | Q9UKA9 | protein_coding | deleterious(0) | possibly_damaging(0.681) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PTBP2 | SNV | Missense_Mutation | | c.191N>A | p.Arg64Gln | p.R64Q | Q9UKA9 | protein_coding | deleterious(0.03) | probably_damaging(0.979) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PTBP2 | SNV | Missense_Mutation | novel | c.956N>C | p.Asn319Thr | p.N319T | Q9UKA9 | protein_coding | tolerated(0.72) | benign(0.01) | TCGA-PG-A917-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PTBP2 | SNV | Missense_Mutation | | c.52G>A | p.Glu18Lys | p.E18K | Q9UKA9 | protein_coding | tolerated(0.05) | benign(0.105) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PTBP2 | SNV | Missense_Mutation | rs777662925 | c.310G>A | p.Glu104Lys | p.E104K | Q9UKA9 | protein_coding | deleterious(0.02) | benign(0.169) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PTBP2 | insertion | In_Frame_Ins | novel | c.1263_1264insGTTGAGTAT | p.Gln421_Leu422insValGluTyr | p.Q421_L422insVEY | Q9UKA9 | protein_coding | | | TCGA-B5-A11F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
PTBP2 | insertion | Frame_Shift_Ins | novel | c.1264_1265insCT | p.Leu422ProfsTer12 | p.L422Pfs*12 | Q9UKA9 | protein_coding | | | TCGA-B5-A11F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |